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Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes.
French CE, Andrews NC, Beggs AH, Boone PM, Brownstein CA, Chopra M, Chou J, Chung WK, D'Gama AM, Doan RN, Ebrahimi-Fakhari D, Goldstein RD, Irons M, Jacobsen C, Kenna M, Lee T, Madden JA, Majmundar AJ, Mann N, Morton SU, Poduri A, Randolph AG, Roberts AE, Roberts S, Sampson MG, Shao DD, Shao W, Sharma A, Shearer E, Shimamura A, Snapper SB, Srivastava S, Thiagarajah JR, Whitman MC, Wojcik MH, Rockowitz S, Sliz P. French CE, et al. Among authors: poduri a. NPJ Genom Med. 2024 Dec 2;9(1):60. doi: 10.1038/s41525-024-00441-9. NPJ Genom Med. 2024. PMID: 39622807 Free PMC article.
Frontal Lobe Epilepsy: Bermuda's Triangle.
Alonso Vanegas MA, Arrotta K, Davis K, Jobst BC, Kotagal P, Poduri A, Valencia I. Alonso Vanegas MA, et al. Among authors: poduri a. Epilepsy Curr. 2024 Sep 28:15357597241280055. doi: 10.1177/15357597241280055. Online ahead of print. Epilepsy Curr. 2024. PMID: 39539403 Free PMC article.
Genome Sequencing After Exome Sequencing in Pediatric Epilepsy.
D'Gama AM, Shao W, Smith L, Koh HY, Davis M, Koh J, Oby BT, Urzua CI, Sheidley BR, Rockowitz S, Poduri A. D'Gama AM, et al. Among authors: poduri a. JAMA Neurol. 2024 Dec 1;81(12):1316-1318. doi: 10.1001/jamaneurol.2024.3582. JAMA Neurol. 2024. PMID: 39432277
N-of-1 trials in epilepsy: A systematic review and lessons paving the way forward.
Defelippe VM, Brilstra EH, Otte WM, Cross HJ, O'Callaghan F, De Giorgis V, Poduri A, Lerche H, Sisodiya S, Braun KPJ, Jansen FE, Perucca E. Defelippe VM, et al. Among authors: poduri a. Epilepsia. 2024 Nov;65(11):3119-3137. doi: 10.1111/epi.18068. Epub 2024 Sep 10. Epilepsia. 2024. PMID: 39254637 Review.
Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants.
D'Gama AM, Phillips HW, Wang Y, Chiu MY, Chahine Y, Swanson AC, Smith RS, Pearl PL, Tsuboyama M, Madsen JR, Lidov H, Lee EA, Prabhu SP, Huang AY, Stone SSD, Walsh CA, Poduri A. D'Gama AM, et al. Among authors: poduri a. medRxiv [Preprint]. 2024 Jul 22:2024.07.21.24310779. doi: 10.1101/2024.07.21.24310779. medRxiv. 2024. PMID: 39108522 Free PMC article. Preprint.
De novo missense variants in HDAC3 leading to epigenetic machinery dysfunction are associated with a variable neurodevelopmental disorder.
Yoon JG, Lim SK, Seo H, Lee S, Cho J, Kim SY, Koh HY, Poduri AH, Ramakumaran V, Vasudevan P, de Groot MJ, Ko JM, Han D, Chae JH, Lee CH. Yoon JG, et al. Among authors: poduri ah. Am J Hum Genet. 2024 Aug 8;111(8):1588-1604. doi: 10.1016/j.ajhg.2024.06.015. Epub 2024 Jul 23. Am J Hum Genet. 2024. PMID: 39047730 Free PMC article.
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA, Barry BJ, Chan WM, MacKinnon S, Whitman MC, Matos Ruiz PM, Pratt BM, England EM, Pais L, Lemire G, Groopman E, Glaze C, Russell KA, Singer-Berk M, Di Gioia SA, Lee AS, Andrews C, Shaaban S, Wirth MM, Bekele S, Toffoloni M, Bradford VR, Foster EE, Berube L, Rivera-Quiles C, Mensching FM, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Wilson MW, Weisburd B, Lek M; Ocular CCDD Phenotyping Consortium; Brand H, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Robson CD, Hunter DG, Engle EC. Jurgens JA, et al. Genet Med. 2024 Jul 17:101216. doi: 10.1016/j.gim.2024.101216. Online ahead of print. Genet Med. 2024. PMID: 39033378 Free article.
290 results